A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy
In: International Journal of Molecular Sciences, Vol 23, Iss 12900, p 12900 (2022, Jg. 23 (2022), Heft 12900, p 12900
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Zugriff:
Complex genomic rearrangements (CGRs) are structural variants arising from two or more chromosomal breaks, which are challenging to characterize by conventional or molecular cytogenetic analysis (karyotype and FISH). The integrated approach of standard and genomic techniques, including optical genome mapping (OGM) and genome sequencing, is crucial for disclosing and characterizing cryptic chromosomal rearrangements at high resolutions. We report on a patient with a complex developmental and epileptic encephalopathy in which karyotype analysis showed a de novo balanced translocation involving the long arms of chromosomes 2 and 18. Microarray analysis detected a 194 Kb microdeletion at 2q24.3 involving the SCN2A gene, which was considered the likely translocation breakpoint on chromosome 2. However, OGM redefined the translocation breakpoints by disclosing a paracentric inversion at 2q24.3 disrupting SCN1A . This combined genomic high-resolution approach allowed a fine characterization of the CGR, which involves two different chromosomes with four breakpoints. The patient’s phenotype resulted from the concomitant loss of function of SCN1A and SCN2A .
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A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy
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Autor/in / Beteiligte Person: | Orlando, Valeria ; Silvia Di Tommaso ; Alesi, Viola ; Loddo, Sara ; Genovese, Silvia ; Catino, Giorgia ; Martucci, Licia ; Maria Cristina Roberti ; Trivisano, Marina ; Maria Lisa Dentici ; Specchio, Nicola ; Dallapiccola, Bruno ; Ferretti, Alessandro ; Novelli, Antonio |
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Zeitschrift: | International Journal of Molecular Sciences, Vol 23, Iss 12900, p 12900 (2022, Jg. 23 (2022), Heft 12900, p 12900 |
Veröffentlichung: | MDPI AG, 2022 |
Medientyp: | academicJournal |
ISSN: | 1422-0067 (print) ; 1661-6596 (print) |
DOI: | 10.3390/ijms232112900 |
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